title: Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
abstract: Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component. Some of these conditions have already been added to a few national and international screening programs, whereas others are undergoing pilot studies to determine the test performance metrics. Here, we review the current state of NBS for 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA. matern@mayo.edu
authors.forename: Dietrich
authors.initials: D
authors.lastname: Matern
authors.forename: Devin
authors.initials: D
authors.lastname: Oglesbee
authors.forename: Silvia
authors.initials: S
authors.lastname: Tortorelli
mesh_terms: D042241:Early Diagnosis; D005621:Friedreich Ataxia / Q000175:diagnosis*; D006527:Hepatolenticular Degeneration / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D020140:Lysosomal Storage Diseases, Nervous System / Q000175:diagnosis*; D015997:Neonatal Screening; D018901:Peroxisomal Disorders / Q000175:diagnosis*; D014481:United States